1) 25(OH) Vitamin D is in fact fairly stable in a serum matrix - I think if you post at room temperature
and it takes two or three days to arrive it should be ok (protect from light if you
like)
2) The child may have pseudohypoparathyroidism, but common things occur
commonly. Given details you supply I'm not sure why this isn't simply a case of
maternal osteomalacia (she has raised PTH - her Ca, phosphate and 25D
would be helpful - although one or two features are perhaps a bit odd). Also you
need to know that the mom hasn't given the kiddie lots of undiluted cows milk
(a common cause of raised phosphate and hypocalcemia in some parts of the
world). I think the kiddie needs Vitamin D therapy in the meanwhile, not
Alfacalcidol.
> Does anyone has the information to indicate that vit D can be lyophilised
> for the purpose of transportation to an overseas lab for measurement?
> Case Study:
> A baby boy was delivered term (DOB:6/7/98) SGA (BW 2.45 kg) to
> non-consanguinous parnets. He is their only child. Postnatally he has
> presumed haemorrhagic disease of newborn which resolved with vit K. On day
> 10 of life he was noted to have transient tachpnoea after feeds (?mild
> aspiration). He was discharged well on D10 of life.
>
> He subsequently remained well until day 47 of life when he was admitted due
> to seizures. The initial diagnosis was sepsis/meningitis but upon receipt
> of Ix results, the diagnosis was revised to hypocalcaemic convulsions.
>
> Investigation done on
>
> Serum levels :
> 20/8/98 26/8/98
> Calcium 1.16 mmol/L 1.38
> Phosphate 3.56 mmol/L 4.52
> urea 6.8 mmol/L
> Mg 0.63 mmol/L
> Creatinine 26 umol/L
> ALP 337 IU/L
> Alb 38 g/L
> Hb 7.3 g/dl, papcked cells transfused on 20/8/98 with post Hb
> of 9.8 g/dl, normal platelets and total white
> Echocardiography : normal
> Treatment : IV calcium glucoronate commenced on 21/8/98 and alpha-calcidol
> 0.2 ug daily added on 26/8/98, increased dose to 0.5 ug bd ib 28/8/98.
> Urine calcium 1.2 mg/24 hrs
> Urine phosphate 11.6mg/24 hrs (low, ? increased renal tubular
> reabsorption)
>
> Pre-treatment PTH : 11.1 pmol/L - on the low side ?hypo or resistant
> Mother's PTH :14.1 pmol/L
> TSH on day 55 is 6.5 mIU/L
> We are thinking along the line of congenital hypoparathyroidism/resistant.
> Sickle cell anaemia is being investigated at the moment based on the high
> serum phosphate and low urine phosphate excretion.
>
> This case is opened for discussion
>
>
>
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